Charcot Marie Tooth Disease Type 1a - Genetic Mutations

Relevant Publications

p62/sequestosome-1 as a severity-reflecting plasma biomarker in Charcot-Marie-Tooth disease type 1A.

Issue Release: 2024

Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.

Issue Release: 2024

Improvement of Charcot-Marie-Tooth Phenotype with a Nanocomplex Treatment in Two Transgenic Models of CMT1A.

Issue Release: 2024

Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.

Issue Release: 2024

Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature.

Issue Release: 2024

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.

Issue Release: 2024

Hip Dysplasia in a Patient in Late Adolescence With Charcot-Marie-Tooth and Multiple Acyl-CoA Dehydrogenase Deficiency.

Issue Release: 2024

Testing SIPA1L2 as a modifier of CMT1A using mouse models.

Issue Release: 2024

Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.

Issue Release: 2024

Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication.

Issue Release: 2024

[Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene].

Issue Release: 2024

Case report: Chronic inflammatory demyelinating polyneuropathy superimposed on Charcot-Marie-tooth type 1A disease after SARS-CoV-2 vaccination and COVID-19 infection.

Issue Release: 2024

Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases.

Issue Release: 2024

PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.

Issue Release: 2024

Unveiling a Rare Coexistence: Duchenne Muscular Dystrophy with Charcot-Marie-Tooth Disease Type 1A Presentation.

Issue Release: 2024

Corrigendum: Case report: Chronic inflammatory demyelinating polyneuropathy superimposed on Charcot-Marie-tooth type 1A disease after SARS-CoV-2 vaccination and COVID-19 infection.

Issue Release: 2024

Synergistic effect of Wharton\'s jelly-derived mesenchymal stem cells and insulin on Schwann cell proliferation in Charcot-Marie-Tooth disease type 1A treatment.

Issue Release: 2024

Neurogenic disease with high CK: think muscle.

Issue Release: 2024

Preclinical Efficacy of Peripheral Nerve Regeneration by Schwann Cell-like Cells Differentiated from Human Tonsil-Derived Mesenchymal Stem Cells in C22 Mice.

Issue Release: 2023

Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A.

Issue Release: 2023

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